ABSTRACT
Background: Endometriosis is a disease that affects women of reproductive age. This disease is characterized by the presence of endometrial-like tissues [endometrial or stromal glands] outside the uterus and shows significantly elevated prevalence in industrial regions. Additionally, an interaction between genetics and environmental factors is assumed for the disease. Enzymes belonging to the cytochrome P450 [CYP] family are participated in detoxi?cation process of a wide range of environmental toxins and carcinogens. Thereby, they are good link for the interaction. CYP1A1 which belong to cytochrome P450 [CYPs] superfamily, is a very important gene for the metabolism of carcinogens
Objective: The aim of this study was to analyze the frequency of the MspI polymorphism of CYP1A1 gene and its relation to endometriosis
Materials and Methods: Genomic DNA was isolated from 93 endometriosis women and 139 healthy controls. Genotyping was performed using polymerase chain reaction followed by restriction fragment length polymorphism analysis
Results: Frequencies of the TT, TC, and CC genotype of CYP1A1 gene polymorphism in patients were 73.1 percent, 22.6 percent, and 4.3 percent, while frequencies in controls were 74.1 percent, 22.3 percent, and 3.6 percent, respectively. So there was no significant differences between the genotypes in two groups [p=0.961]
Conclusion: According to our study, MspI polymorphism of CYP1A1 gene appears to be not associated with the risk of endometriosis in the studied population. However, additional studies, especially with larger sample size are needed to validate these findings
ABSTRACT
Background: Due to the large number of PKU-causing mutations in the phenylalanine hydroxylase gene, it may be not possible to detect the mutation. In these cases, segregation analysis of the variable number tandem repeat [VNTR] polymorphic marker associated with this gene is applied in carrier detection of PKU. Considering the population heterogeneity in Iran, we undertook to investigate allelic frequencies of this marker in the province of Yazd [central Iran] until beginning of 2008
Materials and methods: 24 people, including 9 patients and their parents and siblings, were studied. After DNA extraction from their blood, PCR and gel electrophoresis for VNTR containing fragment was carried out
Results: Totally, 6 VNTR alleles were identified. Only 4 of them were present in mutant chromosomes. The distribution of PKU alleles in chromosomes was as follows: 5.5% VNTR3, 11.0% VNTR7, 78.0% VNTR8 and 5.5% VNTR12. In non-PKU chromosomes, alleles were distributed as follows: 20.0% VNTR3, 20.0% VNTR7, 33.0% VNTR8, 13.0% VNTR9, 7.0% VNTR11 and 7.0% VNTR12. Polymorphic information content [PIC] of this marker was calculated at 63%
Conclusion: This PIC indicates that it is a suitable marker for carrier detection of PKU in the first degree relatives of population under study